Associated Papers
High-throughput screens identify genotype-specific therapeutics for channelopathies.
Egly CL et al.
Jci Insight, 2025
41026531 (PubMed )
Supplement: jciinsight-10-191697-s190.xlsx › Figure_6B
Ion channelopathies associated genetic variants as the culprit for sudden unexplained death.
Wang S et al.
Forensic Science International, 2017
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
23631430 (PubMed )
Supplement: sj-doc-1-gtm-10.1089_gtmb.2012.0118.doc
Characterization of novel KCNH2 mutations in type 2 long QT syndrome manifesting as seizures.
Keller DI et al.
The Canadian Journal of Cardiology, 2009
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
Yoshida H et al.
Journal of Cardiovascular Electrophysiology, 1999
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
Jongbloed RJ et al.
Human Mutation, 1999
Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.
Itoh T et al.
Human Genetics, 1998
[Mutational analyses of familial long QT syndrome].
Tanaka T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1998
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